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Cerebellar ataxia-deafness-narcolepsy syndrome

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

2 OMIM references -
3 associated genes
18 signs/symptoms

Cerebellar ataxia-deafness-narcolepsy syndrome

WAGR syndrome

DNMT1	(UniProt - OMIM)		BDNF	(UniProt - OMIM)
			PAX6	(UniProt - OMIM)
			WT1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DNMT1	(0.63)	WT1

Citations in the biomedical literature:

Cerebellar ataxia-deafness-narcolepsy syndrome		WAGR syndrome
	Synonym(s): - ADCA-DN - Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome		Synonym(s): - Deletion 11p13 - Monosomy 11p13 - Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare oncologic disease - Rare renal disease - Rare urogenital disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 2 MeSH references: C538295 / D017624

WAGR syndrome
	Very frequent - Aniridia / iris hypoplasia - Intellectual deficit / mental / psychomotor retardation / learning disability Frequent - Anomalies of ear and hearing - Cataract / lens opacification - Hypospadias / epispadias / bent penis - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Nystagmus - Protruding lips - Ptosis - Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes - Visual loss / blindness / amblyopia Occasional - Ambiguous genitalia - Generalized obesity - Glaucoma - Inguinal / inguinoscrotal / crural hernia - Scoliosis
Cerebellar ataxia-deafness-narcolepsy syndrome
(no data available)